Incidental Mutation 'R2317:Tedc2'
ID 245540
Institutional Source Beutler Lab
Gene Symbol Tedc2
Ensembl Gene ENSMUSG00000024118
Gene Name tubulin epsilon and delta complex 2
Synonyms 1600002H07Rik
MMRRC Submission 040312-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.819) question?
Stock # R2317 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24434028-24439825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24435358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 344 (S344P)
Ref Sequence ENSEMBL: ENSMUSP00000024930 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024930]
AlphaFold Q6GQV0
Predicted Effect probably benign
Transcript: ENSMUST00000024930
AA Change: S344P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000024930
Gene: ENSMUSG00000024118
AA Change: S344P

DomainStartEndE-ValueType
low complexity region 32 49 N/A INTRINSIC
low complexity region 78 84 N/A INTRINSIC
low complexity region 111 131 N/A INTRINSIC
Pfam:DUF4693 150 434 8.6e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124557
SMART Domains Protein: ENSMUSP00000119405
Gene: ENSMUSG00000024118

DomainStartEndE-ValueType
low complexity region 16 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171563
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc102a T C 8: 95,634,957 (GRCm39) D327G probably null Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Cfap126 A G 1: 170,953,700 (GRCm39) D134G possibly damaging Het
Cript T C 17: 87,335,139 (GRCm39) L19P probably benign Het
Cwf19l1 A C 19: 44,120,597 (GRCm39) L39V possibly damaging Het
Eif2b4 T C 5: 31,348,920 (GRCm39) probably null Het
Esp16 A G 17: 39,850,738 (GRCm39) N39S probably benign Het
Fbxo30 A G 10: 11,166,078 (GRCm39) N267D probably damaging Het
Gabra6 T C 11: 42,208,607 (GRCm39) probably null Het
Gp1ba A G 11: 70,531,473 (GRCm39) probably benign Het
Klf12 C T 14: 100,179,503 (GRCm39) R279Q probably benign Het
Lats1 C T 10: 7,567,540 (GRCm39) Q104* probably null Het
Myrfl A G 10: 116,675,289 (GRCm39) Y215H possibly damaging Het
Ncoa1 A G 12: 4,325,189 (GRCm39) I963T probably damaging Het
Neurod6 A G 6: 55,655,906 (GRCm39) Y244H probably damaging Het
Nodal T C 10: 61,254,212 (GRCm39) M45T possibly damaging Het
Nuggc A G 14: 65,861,591 (GRCm39) E479G possibly damaging Het
Pdcd6ip T C 9: 113,501,842 (GRCm39) D467G probably benign Het
Pnmt C A 11: 98,277,677 (GRCm39) Q74K probably benign Het
Slc25a36 G A 9: 96,961,235 (GRCm39) T267I probably damaging Het
Slc35e3 A G 10: 117,580,804 (GRCm39) S167P probably damaging Het
Sprr2f C A 3: 92,273,390 (GRCm39) P63H unknown Het
Stt3a T C 9: 36,659,371 (GRCm39) I323V probably benign Het
Unc13b A G 4: 43,245,514 (GRCm39) D3722G probably damaging Het
Zfp35 T C 18: 24,136,555 (GRCm39) Y300H probably damaging Het
Zfp959 A G 17: 56,204,326 (GRCm39) D121G possibly damaging Het
Other mutations in Tedc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Tedc2 APN 17 24,436,926 (GRCm39) missense probably benign 0.01
IGL02111:Tedc2 APN 17 24,437,140 (GRCm39) splice site probably benign
IGL02347:Tedc2 APN 17 24,439,584 (GRCm39) missense probably damaging 1.00
IGL03400:Tedc2 APN 17 24,438,777 (GRCm39) missense probably benign
R0766:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R0766:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1066:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1066:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1067:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1067:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1085:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1085:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1086:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1086:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1136:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1136:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1137:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1137:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1203:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1203:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1345:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1345:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1385:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1385:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1396:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1396:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1888:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1888:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1888:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1888:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1891:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1891:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1943:Tedc2 UTSW 17 24,436,923 (GRCm39) missense possibly damaging 0.90
R1984:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1984:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1985:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1985:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R1986:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R1986:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R2026:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R2026:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R2054:Tedc2 UTSW 17 24,435,292 (GRCm39) nonsense probably null
R2054:Tedc2 UTSW 17 24,435,291 (GRCm39) missense probably damaging 1.00
R2086:Tedc2 UTSW 17 24,436,874 (GRCm39) missense probably damaging 1.00
R3705:Tedc2 UTSW 17 24,435,361 (GRCm39) missense probably benign 0.30
R4085:Tedc2 UTSW 17 24,438,813 (GRCm39) missense probably benign 0.01
R4664:Tedc2 UTSW 17 24,439,114 (GRCm39) splice site probably benign
R4676:Tedc2 UTSW 17 24,438,985 (GRCm39) missense probably benign
R4686:Tedc2 UTSW 17 24,436,862 (GRCm39) critical splice donor site probably null
R4762:Tedc2 UTSW 17 24,435,354 (GRCm39) missense probably benign 0.05
R4837:Tedc2 UTSW 17 24,439,567 (GRCm39) missense probably damaging 1.00
R4863:Tedc2 UTSW 17 24,436,910 (GRCm39) missense probably damaging 1.00
R5936:Tedc2 UTSW 17 24,435,315 (GRCm39) missense probably damaging 1.00
R9159:Tedc2 UTSW 17 24,436,705 (GRCm39) missense probably damaging 1.00
R9643:Tedc2 UTSW 17 24,435,328 (GRCm39) missense probably benign
RF031:Tedc2 UTSW 17 24,435,213 (GRCm39) critical splice donor site probably benign
Z1177:Tedc2 UTSW 17 24,439,545 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AAGAGGCTCACTGTCACAAC -3'
(R):5'- GCTTTGTATCCTTTAGAACCAAGC -3'

Sequencing Primer
(F):5'- GAGTCAGTGCCAGCCTCAGTAAG -3'
(R):5'- CCAAGCATACAACTGACAGTAGGG -3'
Posted On 2014-10-30